Variant report

Variant	nsv527438
Chromosome Location	chr9:79225328-79230242
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:12)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr9:79227571-79227752	K562	blood:	n/a	n/a
2	BRCA1	chr9:79229027-79229050	Hela-S3	cervix:	n/a	n/a
3	FOXA1	chr9:79230118-79230483	HepG2	liver:	n/a	n/a
4	FOXA2	chr9:79230142-79230439	HepG2	liver:	n/a	n/a
5	GATA1	chr9:79229982-79230540	PBDE	blood:	n/a	chr9:79230275-79230284 chr9:79230274-79230284
6	GATA3	chr9:79225990-79226495	SK-N-SH	brain:	n/a	chr9:79226223-79226231 chr9:79226009-79226019
7	KAP1	chr9:79224718-79225330	U2OS	brain:	n/a	n/a
8	POLR2A	chr9:79227667-79227752	ProgFib	skin:	n/a	n/a
9	POLR2A	chr9:79224825-79225360	U87	brain:	n/a	n/a
10	POLR2A	chr9:79226913-79227003	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr9:79224825-79225354	U87	brain:	n/a	n/a
12	SPI1	chr9:79229957-79230404	HL-60	blood:	n/a	chr9:79230170-79230177 chr9:79230194-79230207 chr9:79230198-79230205
13	WRNIP1	chr9:79225577-79225611	GM12878	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RFK-5	chr9:79230013-79230078	NONHSAT131960
2	lnc-RFK-5	chr9:79228924-79229516	NONHSAT131960

No data

(count:12 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	PRUNE2	hsa-miR-19b-3p	chr9:79227393-79227417
2	PRUNE2	hsa-miR-19b-3p	chr9:79226741-79226763
3	PRUNE2	hsa-miR-93-5p	chr9:79228286-79228312
4	PRUNE2	hsa-miR-130b-3p	chr9:79226887-79226908
5	PRUNE2	hsa-miR-19b-3p	chr9:79229388-79229382
6	PRUNE2	hsa-miR-196a-5p	chr9:79229383-79229377
7	PRUNE2	hsa-miR-19b-3p	chr9:79227738-79227731
8	PRUNE2	hsa-miR-19b-3p	chr9:79227732-79227754
9	PRUNE2	hsa-miR-196a-5p	chr9:79229377-79229398
10	PRUNE2	hsa-miR-130b-3p	chr9:79229387-79229380
11	PRUNE2	hsa-miR-19b-3p	chr9:79229382-79229401
12	PRUNE2	hsa-miR-130b-3p	chr9:79229381-79229402

Variant related genes	Relation type
PRUNE2	TF binding region

Extended variants
information (count: 186 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:186 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11144978	chr9:79225328-79225329	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs142227303	chr9:79225366-79225367	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs75538802	chr9:79225384-79225385	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs577268998	chr9:79225447-79225448	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs539932316	chr9:79225460-79225461	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs180958466	chr9:79225476-79225477	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs12004939	chr9:79225495-79225496	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs146153932	chr9:79225511-79225512	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs562323683	chr9:79225592-79225593	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs531071615	chr9:79225634-79225635	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs112870195	chr9:79225685-79225686	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs551298138	chr9:79225691-79225692	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs564468772	chr9:79225734-79225735	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs147858365	chr9:79225744-79225745	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs547097593	chr9:79225771-79225772	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs184975592	chr9:79225785-79225786	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs539742899	chr9:79225786-79225787	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs115957867	chr9:79225849-79225850	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs34324004	chr9:79225875-79225876	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs569039601	chr9:79225905-79225906	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs73454165	chr9:79225932-79225933	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs557673790	chr9:79225984-79225985	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs577204846	chr9:79225989-79225990	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs533571700	chr9:79225999-79226000	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs376226123	chr9:79226006-79226007	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs190173458	chr9:79226041-79226042	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs141319659	chr9:79226064-79226065	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs542717689	chr9:79226071-79226072	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs786317	chr9:79226079-79226080	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs575955215	chr9:79226083-79226084	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs73454167	chr9:79226141-79226142	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs148000475	chr9:79226290-79226291	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs561849644	chr9:79226302-79226303	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs1045994	chr9:79226325-79226326	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs533339954	chr9:79226326-79226327	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs540600749	chr9:79226329-79226330	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs200789549	chr9:79226330-79226331	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs3177384	chr9:79226346-79226347	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs529326528	chr9:79226353-79226354	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs549505153	chr9:79226446-79226447	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs568950402	chr9:79226499-79226500	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs141684619	chr9:79226534-79226535	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs551242347	chr9:79226566-79226567	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs181120897	chr9:79226571-79226572	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs35547855	chr9:79226592-79226593	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs11144979	chr9:79226644-79226645	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
47	rs186973663	chr9:79226734-79226735	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs567258012	chr9:79226737-79226738	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs535961683	chr9:79226807-79226808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567162614	chr9:79226843-79226844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intellectual disability	22102821	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:79211000-79229200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:79215400-79229400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr9:79216000-79226600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:79218800-79227200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr9:79220200-79227400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr9:79221000-79229400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr9:79221200-79229800	Weak transcription	GM12878-XiMat	blood
8	chr9:79222200-79225600	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr9:79222200-79225600	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr9:79222400-79225600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr9:79223600-79229400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr9:79223600-79230200	Weak transcription	Primary B cells from cord blood	blood
13	chr9:79223800-79225400	Enhancers	Colon Smooth Muscle	Colon
14	chr9:79224000-79225400	Enhancers	Brain Hippocampus Middle	brain
15	chr9:79224000-79225600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr9:79224000-79226800	Active TSS	Fetal Intestine Large	intestine
17	chr9:79224200-79225600	Enhancers	Fetal Lung	lung
18	chr9:79224200-79225800	Enhancers	Small Intestine	intestine
19	chr9:79224200-79229000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr9:79224400-79225400	Enhancers	Fetal Muscle Leg	muscle
21	chr9:79224400-79225600	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr9:79224400-79225800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr9:79224400-79225800	Active TSS	Fetal Intestine Small	intestine
24	chr9:79224400-79229600	Enhancers	Stomach Mucosa	stomach
25	chr9:79224600-79225400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr9:79224600-79225600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr9:79224600-79225600	Enhancers	NHDF-Ad	bronchial
28	chr9:79224600-79225800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr9:79224600-79225800	Enhancers	Adipose Nuclei	Adipose
30	chr9:79224600-79239000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr9:79224600-79244400	Weak transcription	Brain Angular Gyrus	brain
32	chr9:79224800-79225400	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr9:79224800-79225600	Enhancers	HSMMtube	muscle
34	chr9:79224800-79228400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr9:79224800-79228800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr9:79224800-79239600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr9:79225000-79225600	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr9:79225000-79225600	Enhancers	Osteobl	bone
39	chr9:79225000-79225800	Enhancers	HSMM	muscle
40	chr9:79225000-79227200	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr9:79225000-79227800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr9:79225200-79225400	Weak transcription	Rectal Smooth Muscle	rectum
43	chr9:79225200-79225600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr9:79225200-79225600	Weak transcription	Gastric	stomach
45	chr9:79225200-79239000	Weak transcription	Brain Anterior Caudate	brain
46	chr9:79225200-79239600	Weak transcription	Brain Substantia Nigra	brain
47	chr9:79225400-79225600	Active TSS	Duodenum Mucosa	Duodenum
48	chr9:79225400-79225800	Enhancers	Rectal Smooth Muscle	rectum
49	chr9:79225400-79233600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr9:79225400-79233600	Weak transcription	Stomach Smooth Muscle	stomach

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